Genomic variant #0000016843

Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.36341858C>G
DNA change (hg38) g.35850956C>G
Published as intron 4, nt526+5(G>C): Splice-site mutation
ISCN -
DB-ID NPHS1_000030
Variant remarks 1 Swedish CNF family (com-het)
Reference PubMed: Lenkkeri at al. 1999
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation yes
Frequency 0/30 CON
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Anne Polvi




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NPHS1 NM_004646.3 +?/+? i04 c.526+5G>C - r.spl? p.?